Primary hyperoxaluria: Report of an Italian family with clear sex conditioned penetrance

Urological Research

Volumn 36, Issue 6, 2008, Pages 309-312

  Mandrile, G ^a   Robbiano, A ^a   Giachino, D F ^a   Sebastiano, R ^a   Dondi, E ^b   Fenoglio, R ^b   Stratta, P ^b   Caruso, M R ^c   Petrarulo, M ^d   Marangella, M ^d   De Marchi, M ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^c OSPEDALI RIUNITI   (Italy)

^d MAURIZIANO HOSPITAL   (Italy)

Author keywords

AGXT gene; Modifier genes; Primary hyperoxaluria type I; Sex related penetrance

Indexed keywords

HYDROXY ACID OXIDASE A; ISOTOPE; MAGNESIUM; OXALIC ACID; POTASSIUM; PYRIDOXINE;

ADULT; CLINICAL ARTICLE; CONFERENCE PAPER; FAMILY STUDY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; ITALY; MALE; NEPHROLITHIASIS; OXALOSIS 1; PEDIGREE ANALYSIS; PENETRANCE; PREVALENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEX DIFFERENCE; SISTER GROUP; STONE FORMATION; URINALYSIS;

ADULT; FEMALE; HOMOZYGOTE; HUMANS; HYPEROXALURIA, PRIMARY; ITALY; MALE; MUTATION; PEDIGREE; SEX CHARACTERISTICS;

EID: 57049120139     PISSN: 03005623     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00240-008-0162-4     Document Type: Conference Paper

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